AAV vectors: The Rubik's cube of human gene therapy

A Pupo, A Fernández, SH Low, A François… - Molecular Therapy, 2022 - cell.com
Defective genes account for∼ 80% of the total of more than 7,000 diseases known to date.
Gene therapy brings the promise of a one-time treatment option that will fix the errors in …

Progranulin as a therapeutic target in neurodegenerative diseases

H Rhinn, N Tatton, S McCaughey, M Kurnellas… - Trends in …, 2022 - cell.com
Progranulin (PGRN, encoded by the GRN gene) plays a key role in the development,
survival, function, and maintenance of neurons and microglia in the mammalian brain. It …

FSH blockade improves cognition in mice with Alzheimer's disease

J Xiong, SS Kang, Z Wang, X Liu, TC Kuo, F Korkmaz… - Nature, 2022 - nature.com
Alzheimer's disease has a higher incidence in older women, with a spike in cognitive
decline that tracks with visceral adiposity, dysregulated energy homeostasis and bone loss …

Base editing rescue of spinal muscular atrophy in cells and in mice

M Arbab, Z Matuszek, KM Kray, A Du, GA Newby… - Science, 2023 - science.org
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from
survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved …

Glucose metabolism links astroglial mitochondria to cannabinoid effects

D Jimenez-Blasco, A Busquets-Garcia… - Nature, 2020 - nature.com
Astrocytes take up glucose from the bloodstream to provide energy to the brain, thereby
allowing neuronal activity and behavioural responses,,,–. By contrast, astrocytes are under …

[HTML][HTML] Adeno-associated virus technologies and methods for targeted neuronal manipulation

L Haery, BE Deverman, KS Matho, A Cetin… - Frontiers in …, 2019 - frontiersin.org
Cell-type-specific expression of molecular tools and sensors is critical to construct circuit
diagrams and to investigate the activity and function of neurons within the nervous system …

Glucose-dependent insulinotropic polypeptide receptor-expressing cells in the hypothalamus regulate food intake

AE Adriaenssens, EK Biggs, T Darwish, J Tadross… - Cell metabolism, 2019 - cell.com
Ambiguity regarding the role of glucose-dependent insulinotropic polypeptide (GIP) in
obesity arises from conflicting reports asserting that both GIP receptor (GIPR) agonism and …

CNS transduction benefits of AAV-PHP. eB over AAV9 are dependent on administration route and mouse strain

SN Mathiesen, JL Lock, L Schoderboeck… - … Therapy-Methods & …, 2020 - cell.com
Adeno-associated viral (AAV) vectors are attractive tools for central nervous system (CNS)
gene therapy because some vectors can cross the blood-brain barrier (BBB), allowing them …

dCas9-based Scn1a gene activation restores inhibitory interneuron excitability and attenuates seizures in Dravet syndrome mice

G Colasante, G Lignani, S Brusco, C Di Berardino… - Molecular Therapy, 2020 - cell.com
Dravet syndrome (DS) is a severe epileptic encephalopathy caused mainly by heterozygous
loss-of-function mutations of the SCN1A gene, indicating haploinsufficiency as the …

Efficient strategies for microglia replacement in the central nervous system

Z Xu, Y Rao, Y Huang, T Zhou, R Feng, S Xiong… - Cell reports, 2020 - cell.com
Microglia are important immune cells in the central nervous system (CNS). Dysfunctions of
gene-deficient microglia contribute to the development and progression of multiple CNS …